Flávia Piazzon

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

Tamara Dangouloff, Eva Vrščaj, Laurent Servais et al. · Neuromuscular Disorders · 2021 · 172 citations

Medicine, Pediatrics, Preventive Medicine +12

Wide Clinical Variability in Cat Eye Syndrome Patients: Four Non-Related Patients and Three Patients from the Same Family

Síntia Belangero, Ade Nubia Xavier Pacanaro, Fernanda T. Bellucco et al. · Cytogenetic and Genome Research · 2012 · 38 citations

Life Sciences, Genetics, Cytogenetics +16

Population-based, first-tier genomic newborn screening in the maternity ward

François Boemer, Kristine Hovhannesyan, Flávia Piazzon et al. · Nature Medicine · 2025 · 38 citations · Full text

Life Sciences, Genetics, Pediatrics +16

Thrombotic microangiopathy caused by methionine synthase deficiency: diagnosis and treatment pitfalls

María Helena Vaisbich, Andressa Braga, Maria Gabrielle et al. · Pediatric Nephrology · 2017 · 21 citations

Medicine, Hematology, Pathology +13

Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome

Évelin Aline Zanardo, Flávia Piazzon, Roberta Lelis Dutra et al. · Molecular Genetics and Genomics · 2014 · 19 citations

Life Sciences, Genetics, Molecular Genetics +16